Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy

J Clin Gastroenterol. 2008 Feb;42(2):213-4. doi: 10.1097/01.mcg.0000225628.84168.25.

Abstract

Deficiency of any of the 5 enzymes in the urea cycle results in the accumulation of ammonia, leading to encephalopathy; which if untreated, can be lethal and produce devastating neurologic sequelae in long-term survivors. We hereby present an interesting case that presented with hyperammonemia and encephalopathy; later found to have an urea cycle defect.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Glucocorticoids / adverse effects
  • Hepatic Encephalopathy / diagnosis*
  • Humans
  • Hyperammonemia / diagnosis*
  • Hyperammonemia / drug therapy
  • Hyperammonemia / etiology*
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Middle Aged
  • Phenylbutyrates / therapeutic use
  • Prednisone / adverse effects
  • Sodium Benzoate / therapeutic use
  • Urea / metabolism*

Substances

  • Glucocorticoids
  • Phenylbutyrates
  • Urea
  • Sodium Benzoate
  • Prednisone